NOTE: CFDE GeneReg LDH is an API service. The API was originally developed in support of ClinGen. This legacy UI was used to ease illustration, demonstration, and explanation of its approach and content.
- It is not the primary application or interface, which is the API itself
- This UI is no longer maintained and in some sense a distraction.
- Therefore, this UI is deprecated and slated for removal.
Evidence (information) and Assertion (knowledge) for Regulatory relationship between Variants, Regulatory Elements, and Genes
The CFDE Gene Regulation Linked Data Hub (CFDE GeneReg LDH) data store leverages the reusable and extensible LDH API microservice codebase employed by the Milosavljevic lab to support select efforts.
( This UI is merely a wrapper around that API and was readily available via configuration settings due to reusability practices. Be advised that it should not be construed as an end user UI for a tailored CFDE Gene interaction experience. Furthermore, the current data model and content covers a test-case/proof-of-concept. )
Learn more
Explore the CFDE Gene Regulation Linked Data Hub
Lookup using identifiers
CFDE GeneReg LDH Stats
| Subject Entity Type | Count |
|---|---|
| Gene | 18,701 |
| Variant | 309,356,637 |
| Total | 976967213 |
| Linked Entity Type | Count |
|---|---|
| Allele Specific Evidence | 10,305,802 |
| Context | 10 |
| Defined Subpopulation Allele Frequency Evidence | 0 |
| Encode Regulatory Element Evidence | 645,744,546 |
| Genomic Region Functional Effect Evidence Line | 0 |
| Genomic Region Functional Effect Knowledge | 0 |
| Mixed Population Allele Frequency Evidence | 0 |
| Publication | 0 |
| Rbp Regulatory Evidence | 937,116 |
| Regulatory Element | 2,150,189 |
| Variant Functional Effect Evidence Line | 0 |
| Variant Functional Effect Knowledge | 0 |
| Xqtl Evidence | 8,454,212 |
| Total | 976967213 |
Model
- This test-case / proof-of-concept loaded CFDE Gene content into a dedicated LDH based microservice.
- The data model used to persist the content was simplified and not reflective of the planned data model, which is being finalized.
- Note: modeling the persistent store is largely a low-level and behind-the-scenes engineering activity which considers the hybrid database being used and LDH concepts for employing it.
CFDE Gene Content
- To learn more about CFDE GeneReg LDH content and how to access them, visit the Content and Access page.
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